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A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus

✍ Scribed by Manuela Seia; Angelo Cantù-Rajnoldi; Antonella Ambrosioni; Sabrina Fiori; Silvia Prandoni; Carlo Corbetta; Alessandra Bassotti; Elena Moretti; Annamaria Giunta; Rita Padoan

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 10 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200009)16:3<279::aid-humu31>3.0.co;2-#

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✍ Rita Padoan; Alessandra Bassotti; Manuela Seia; Antonella Ambrosioni; Sabrina Fi 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 1 views

A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis